疾病条目id

DI-00006

基因病名称(英)

3-methylglutaconic aciduria 3

基因病名称

3-甲基戊二酸尿症 3

关键字(英)

关键字

别名(英)

3-alpha-methylglutaconic aciduria type 3,Costeff optic atrophy syndrome,Costeff syndrome,MGA3,MGA type III,Optic atrophy 3 autosomal recessive,Optic atrophy plus syndrome

别名

3-α-甲基戊二酸尿症 3 型，Costeff 视神经萎缩综合征，Costeff 综合征，MGA3，MGA III 型，视神经萎缩 3 常染色体隐性遗传，视神经萎缩加综合征

统计

reviewed:1; annotated:0

交叉引用

258501,C0574084,D015418

助记符

MGCA3

描述(英)

An autosomal recessive metabolic disorder that causes a neuro- ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGCA3 can be distinguished from MGCA1 by the absence of increase of 3-hydroxyisovaleric acid levels.

描述

一种常染色体隐性遗传代谢疾病，可导致神经眼科综合征，包括早发性双侧视神经萎缩、痉挛、锥体外系功能障碍和认知缺陷。3-甲基戊二酸和3-甲基戊二酸的尿排泄增加。MGCA3 与 MGCA1 的区别在于 3-羟基异戊酸水平没有增加。